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References OMIM Gene GeneReviews HGMD HGNC
last update : 02-02-2017
Symbol LCA18
Location 6p21.1
Name Leber congenital amaurosis 18
Corresponding gene PRPH2
Main clinical features
  • early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction
  • at birth profound vision loss and pendular nystagmus; electroretinogram (ERG) responses are usually nonrecordable
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease